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Human Disease

congenital myopathy 16

Term ID
DOID:0081348
Synonyms
Definition
A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. https://pubmed.ncbi.nlm.nih.gov/31025394/
References
Ontology
Human Disease   ( DOID:0081348 )
Relationships
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Genes Involved
Zebrafish Models